P76L (p.Pro76Leu) variant of PROS1 (Vitamin K-dependent protein S)
P76L (p.Pro76Leu) in PROS1 (Vitamin K-dependent protein S) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; not provided; Thrombophilia due to protein S deficiency, autosoma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and published literature.
P76L (p.Pro76Leu) variant details
- p.Pro76Leu
- rs73846070
- ClinGen CA2503573
- ClinVar RCV000650163
- ClinVar RCV001084203
- Conflicting interpretations
- not specified; not provided; Thrombophilia due to protein S deficiency, autosoma
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- REVEL 0.67
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.06
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Thrombophilia due to protein S defi)
- EBI: Benign (in dbSNP:rs73846070)
- UniProt: Benign (in dbSNP:rs73846070)
- Most common in the 1KG:PUR population (allele frequency 0.02)
- Cited in: Poor relationship between phenotypes of protein S deficiency and mutations in the protein S alpha gene. (PMID 10613647)
- Cited in: Molecular diversity and thrombotic risk in protein S deficiency: the PROSIT study. (PMID 15712227)